Respiratory defects in the <i>Crtap</i>KO mouse model of osteogenesis imperfecta

Dimori, Milena; Heard‐Lipsmeyer, Melissa E.; Byrum, Stephanie D.; Mackintosh, Samuel G.; Kurten, Richard C.; Carroll, John L.; Morello, Roy

doi:10.1152/ajplung.00313.2019

Cited by 14 publications

(44 citation statements)

References 64 publications

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“…There was a significant increase in the Lm value of the lungs of OI mice compared to the control mice. These alterations caused changes in the breathing pattern of the mice and affected their respiratory mechanics [ 11 , 32 ].…”

Section: Resultsmentioning

confidence: 99%

Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review

Storoni

Treurniet

Micha³

et al. 2021

Annals of Medicine

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Introduction Respiratory failure is a major cause of death in patients with Osteogenesis Imperfecta. Moreover, respiratory symptoms seem to have a dramatic impact on their quality of life. It has long been thought that lung function disorders in OI are mainly due to changes in the thoracic wall, caused by bone deformities. However, recent studies indicate that alterations in the lung itself can also undermine respiratory health. Objectives Is there any intrapulmonary alteration in Osteogenesis Imperfecta that can explain decreased pulmonary function? The aim of this systematic literature review is to investigate to what extent intrapulmonary or extrapulmonary thoracic changes contribute to respiratory dysfunction in Osteogenesis Imperfecta. Methods A literature search (in PubMed, Embase, Web of Science, and Cochrane), which included articles from inception to December 2020, was performed in accordance with the PRISMA guidelines. Results Pulmonary function disorders have been described in many studies as secondary to scoliosis or to thoracic skeletal deformities. The findings of this systematic review suggest that reduced pulmonary function can also be caused by a primary pulmonary problem due to intrinsic collagen alterations. Conclusions Based on the most recent studies, the review indicates that pulmonary defects may be a consequence of abnormal collagen type I distorting the intrapulmonary structure of the lung. Lung function deteriorates further when intrapulmonary defects are combined with severe thoracic abnormalities. This systematic review reveals novel findings of the underlying pathological mechanism which have clinical and diagnostic implications for the assessment and treatment of pulmonary function disorders in Osteogenesis Imperfecta. KEY MESSAGES Decreased pulmonary function in Osteogenesis Imperfecta can be attributed to primary pulmonary defects due to intrapulmonary collagen alterations and not solely to secondary problems arising from thoracic skeletal dysplasia. Type I collagen defects play a crucial role in the development of the lung parenchyma and defects, therefore, affect pulmonary function. More awareness is needed among physicians about pulmonary complications in Osteogenesis Imperfecta to develop novel concepts on clinical and diagnostic assessment of pulmonary functional disorders.

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Section: Resultsmentioning

confidence: 99%

Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review

Storoni

Treurniet

Micha³

et al. 2021

Annals of Medicine

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“…Moreover, plethysmography and respiratory mechanics measurements in CrtapKO mice demonstrated intrinsic changes suggestive of tissuelevel alterations in the resistive and elastic properties of the lungs, accompanied by significant alterations in pressure-volume (PV) curves. These results suggest altered mechanical properties consistent with a less-compliant respiratory system, increased dissipative properties, and increased tissue elasticity, while the PV data indicate altered pressure-volume relationships (10). These data support the presence of intrinsic defects in the respiratory system of both dominant and recessive mouse models of OI and hopefully will ultimately translate into improved health care for OI patients.…”

Section: Pulmonary Functionmentioning

confidence: 52%

“…Importantly, the disease in these cases is always systemic, because fibroblasts in other organs and body systems also synthesize abnormal type I collagen (e.g. in the eyes, lungs, and heart valves) (10). Mutations affecting genes unrelated to type I collagen synthesis appear to have deleterious effects on the differentiation and/or function of osteoblasts, which ultimately result in significantly decreased bone formation and thus brittle bones (1).…”

Section: Effect Of Oi On Osteoblastsmentioning

confidence: 99%

“…Baglole et al (41) have shown pulmonary airspace enlargement and alterations in the diaphragm of Col1a1 Jrt/+ mice. Recent work by Dimori et al (10) in the CrtapKO mouse model of recessive OI showed that type I collagen in the lung had similar defects as in the bone and skin. Moreover, plethysmography and respiratory mechanics measurements in CrtapKO mice demonstrated intrinsic changes suggestive of tissuelevel alterations in the resistive and elastic properties of the lungs, accompanied by significant alterations in pressure-volume (PV) curves.…”

Section: Pulmonary Functionmentioning

confidence: 99%

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Management of Endocrine Disease: Osteogenesis imperfecta: an update on clinical features and therapies

Marom

Rabenhorst

Morello

2020

European Journal of Endocrinology

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152

138

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Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to 25% of cases are associated with other genes that function within the collagen biosynthesis pathway or are involved in osteoblast differentiation and bone mineralization. Clinically, OI is heterogeneous in features and variable in severity. In addition to the skeletal findings, it can affect multiple systems including dental and craniofacial abnormalities, muscle weakness, hearing loss, respiratory and cardiovascular complications. A multi-disciplinary approach to care is recommended to address not only the fractures, reduced mobility, growth and bone pain but also other extra-skeletal manifestations. While bisphosphonates remain the mainstay of treatment in OI, new strategies are being explored, such as sclerostin inhibitory antibodies and TGF beta inhibition, to address not only the low bone mineral density but also the inherent bone fragility. Studies in animal models have expanded the understanding of pathomechanisms of OI and, along with ongoing clinical trials, will allow to develop better therapeutic approaches for these patients.

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“…The relationship between the heart and the lungs received regular attention in the pages of AJP-Lung (55), most recently, this attention has included identifying lipid mediators of right ventricular adaptation in pulmonary hypertension (56). In the gut, roles for the lung-gut axis in stunted lung development after preterm birth have recently been reported (57-59), and even bone has not been neglected in studies on the respiratory system, with one recent report in AJP-Lung characterizing the respiratory defects associated with osteogenesis imperfecta (60).…”

Section: Ajp-lung Cellular and Molecular Physiologymentioning

confidence: 99%

An American Physiological Society cross-journal Call for Papers on “Inter-Organ Communication in Homeostasis and Disease”

Bodine

Brooks

Bunnett

et al. 2021

American Journal of Physiology-Lung Cellular and Molecular Phys

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The acquisition of multicellularity has led to the higher-order organization of cells, tissues, and organs over the course of evolution (1-4), which has necessitated the parallel development of communication systems between these anatomical entities. These communication systems include the neurons of the nervous system, and a variety of soluble mediators, including peptides, proteins, and metabolites, which constitute the inter-organ communication network (ICN) (5-7).Although the term "physiology" was first coined in 1542 ( 8) by Jean François Fernel (1497-1558), physician to the court of King Henry II of France, an appreciation of communication between organs reaches back to ancient times. The first published account of an experimental demonstration of the physiological role of inter-organ communication is probably that of Galen of Pergamon (129-216) -who is often regarded as the founder of experimental physiology-while documenting the role of the pharyngeal nerves (9). Since then, disturbances to inter-organ communication have been credited with pivotal roles in a broad spectrum of disease states (10-15). In addition to pathophysiology, the role of interorgan communication in homeostasis was recognized by Walter B. Cannon (1871-1945, who served as 6 th President of our American Physiological Society (APS), when Cannon, building on the pioneering work of French physiologist Claude Bernard (1813-1878) on the milieu intérieur (16), coined the term "homeostasis" [first, "homeostatics" (17)] in his seminal article in Physiological Reviews in 1929 (18).

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Respiratory defects in the CrtapKO mouse model of osteogenesis imperfecta

Cited by 14 publications

References 64 publications

Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review

Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review

Management of Endocrine Disease: Osteogenesis imperfecta: an update on clinical features and therapies

An American Physiological Society cross-journal Call for Papers on “Inter-Organ Communication in Homeostasis and Disease”

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